Charcot-Marie-Tooth disease type 2

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:hereditary_spastic_paraplegia muscular dystrophy
gptkbp:abbreviation	gptkb:CMT2
gptkbp:affects	peripheral nerves
gptkbp:associatedWith	gptkb:MPZ gptkb:HSPB8 gptkb:NEFL gptkb:HSPB1 gptkb:GDAP1 gptkb:MFN2 GARS
gptkbp:causedBy	genetic disorder
gptkbp:diagnosedBy	genetic testing clinical examination nerve conduction studies
gptkbp:diseaseCategory	gptkb:Charcot-Marie-Tooth_disease axonal neuropathy
gptkbp:hasOrphanetID	ORPHA:101081
https://www.w3.org/2000/01/rdf-schema#label	Charcot-Marie-Tooth disease type 2
gptkbp:ICD-10_code	G60.1
gptkbp:inheritance	autosomal dominant autosomal recessive
gptkbp:namedAfter	gptkb:Pierre_Marie gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth
gptkbp:OMIM	118210
gptkbp:onset	adolescence adulthood
gptkbp:prevalence	rare
gptkbp:progression	slowly progressive
gptkbp:subspecies	gptkb:CMT2A CMT2B CMT2C CMT2D CMT2E CMT2F CMT2I CMT2J
gptkbp:symptom	muscle atrophy muscle weakness difficulty walking foot drop high arched feet reduced sensation in limbs
gptkbp:treatment	occupational therapy physical therapy pain management orthopedic devices
gptkbp:bfsParent	gptkb:CMT2
gptkbp:bfsLayer	7